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An estimation of the prevalence of genomic disorders using chromosomal microarray data
Multiple genomic disorders result from recurrent deletions or duplications between low-copy repeat (LCR) clusters, mediated by nonallelic homologous recombination (NAHR). These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population preva...
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| 出版年: | J Hum Genet |
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| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6019170/ https://ncbi.nlm.nih.gov/pubmed/29691480 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-018-0451-x |
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